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Purine metabolism disease

MONDO:0037829

A disease that has its basis in the disruption of purine nucleobase metabolic process.

Also known as: disorder of purine metabolism, disorder of purine nucleobase metabolic process, purine nucleobase metabolic process disease

14 clinical trials for this condition and its sub-types.

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Sub-types

Adenine phosphoribosyltransferase deficiency (6) Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency (6) Adenylosuccinate lyase deficiency (2) Purine nucleoside phosphorylase deficiency (2) Adenosine monophosphate deaminase deficiency (1) AICA-ribosiduria (1) Developmental and epileptic encephalopathy, 35 (1) Lesch-Nyhan syndrome (1) Phosphoribosylpyrophosphate synthetase superactivity (1) Xanthinuria type I (1) Charcot-Marie-Tooth disease X-linked recessive 5 (0) Familial juvenile hyperuricemic nephropathy type 1 (0) Hemolytic anemia due to erythrocyte adenosine deaminase overproduction (0) Hereditary xanthinuria (0) Hypoxanthine-guanine phosphoribosyltransferase deficiency (0) Hypoxanthine guanine phosphoribosyltransferase partial deficiency (0) Inborn disorder of purine metabolism (0) Lesch-Nyhan phenotype with normal HGPRT (0) Mild phosphoribosylpyrophosphate synthetase superactivity (0) Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) (0)

Broader categories

Disease (680) Metabolic disease (233) Human disease (14) Disease by developmental or physiological process (0)

Trials to join now! 9 Not yet finished but already full! 3 Completed 2